Department of Pediatrics, Division of Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Department of Pediatrics, Division of Adolescent Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
J Adolesc Health. 2015 May;56(5):477-82. doi: 10.1016/j.jadohealth.2015.01.008.
Several studies have shown that a large percentage of inborn errors of metabolism is present in adolescent patients. Individually, each diagnosis in this category of diseases is rare; therefore, there is often a significant delay in determining the etiology of a patient's complaints. These disorders can have a wide variety of multisystemic presentations, several of which overlap with more common disorders of adolescence. This review highlights the red-flag findings on history and physical examination indicating a possible inborn error of metabolism. In addition, a systematic approach for evaluating and categorizing these disorders is introduced and demonstrated through case examples. Primary care physicians play a crucial role in the early detection and prompt treatment of patients with late-onset inborn errors of metabolism.
多项研究表明，相当大比例的先天性代谢缺陷存在于青少年患者中。在这个疾病类别中，每种诊断都很少见；因此，确定患者症状的病因往往会有显著的延迟。这些疾病可能有各种各样的多系统表现，其中有一些与青少年更常见的疾病重叠。本综述强调了病史和体格检查中可能提示先天性代谢缺陷的危险信号发现。此外，还介绍并通过病例示例展示了一种评估和分类这些疾病的系统方法。初级保健医生在早期发现和及时治疗迟发性先天性代谢缺陷患者方面发挥着至关重要的作用。
